Research Topics
| Robert S WildinSummaryAffiliation: Oregon Health and Science University Country: USA Publications
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Detail Information
Publications
AVPR2 variants and V2 vasopressin receptor function in nephrogenic diabetes insipidusR S Wildin
Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, USA
Kidney Int 54:1909-22. 1998..This analysis can be aided by examining amino acid sequence variation and conservation among evolutionarily disparate members of the subfamily...
X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfyR S Wildin
Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, USA
Nat Genet 27:18-20. 2001..We found four non-polymorphic mutations. Each mutation affects the forkhead/winged-helix domain of the scurfin protein, indicating that the mutations may disrupt critical DNA interactions...
Prospective immunological profiling in a case of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX)A C Bakke
Department of Pathology, Oregan Health and Science University, Portland, OR, USA
Clin Exp Immunol 137:373-8. 2004..Continuous maintenance of immunosuppression, once started, appears critical for prevention of permanent tissue damage...
Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndromeR S Wildin
Department of Molecular and Medical Genetics, Oregon Health Sciences University, Mailcode MP350, 3181 SW Sam Jackson Park Road, Portland, OR 97201 3098, USA
J Med Genet 39:537-45. 2002..Remission has been observed with bone marrow transplantation despite incomplete engraftment, but the long term outcome is uncertain...
Neonatal diabetes mellitus, enteropathy, thrombocytopenia, and endocrinopathy: Further evidence for an X-linked lethal syndromeE Levy-Lahad
Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland 97201-3098, USA
J Pediatr 138:577-80. 2001..The syndrome is usually fatal, but survival is sometimes possible with immunosuppressive therapy. Clinical variability and frequent new mutations may contribute to poor recognition and underreporting of similar cases...
Rescue of the autoimmune scurfy mouse by partial bone marrow transplantation or by injection with T-enriched splenocytesS K Smyk-Pearson
Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, USA
Clin Exp Immunol 133:193-9. 2003..The potency of small numbers of normal cells indicates that IPEX may be a feasible target for gene therapy...
IPEX and FOXP3: clinical and research perspectivesRobert S Wildin
Unité Biologie Des Populations Lymphocytaires, CNRS URA 1961, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France
J Autoimmun 25:56-62. 2005..One explanation for the lesser disease severity in these females is proposed...
